Undiagnosed-diseases center to open in Boston

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Philip Lussier and his family are hoping to find out the cause of a disease that has caused nerve and muscular skeletal problems. Philip hits a chip shot in front of his parents Betsy and Phil Lussier and his siblings, Amy and Mark, in their backyard.

By Carolyn Y. Johnson
Globe Staff
July 01, 2014

In medicine, it’s called the diagnostic odyssey: the difficult months and years that patients and families spend trying to figure out the cause of a baffling collection of symptoms.

The National Institutes of Health announced Tuesday it will expand its efforts to solve such medical mysteries by creating a network of six centers, including one in Boston, that will each receive $7.2 million over the next four years.

The new Harvard Center for Integrated Approaches to Undiagnosed Diseases will combine the resources of Brigham and Women’s, Massachusetts General, and Boston Children’s hospitals. A coordinating center at Harvard Medical School will help route patients to centers across the country and facilitate the sharing of data among the programs.

The project leaders hope to identify rare diseases that are currently unknown and develop treatments -- and gain insights that might apply to illnesses affecting many more people.

“We should be able to generalize what we learn from this to more common diseases in this era of the hope for increasingly personalized and precision medicine,” said Dr. Joseph Loscalzo, chief of medicine at the Brigham.

The network is an expansion of a pilot Undiagnosed Diseases Program the NIH launched in 2008 at its Bethesda, Md., campus. Over the past six years, the NIH has been able to study only about 600 of the more than 3,000 children and adults who applied to the program.

The Boston center will use techniques that include DNA sequencing and analysis of the microbes present on patients’ skin or in their digestive tracts to discern the root of illnesses of a dozen patients in its first year. The hope is that newer technology, including the ability to search for networks of genes working in concert to cause disease, will improve the odds of finding the cause of a rare disease, which are currently around 25 percent.

The effort to understand rare, mysterious diseases is nothing new in Boston, where researchers have identified the causes of inherited hearing loss, muscle-weakening disease, and seizures. But Loscalzo said the new center will consolidate those kinds of efforts across institutions and help formalize the process for using cutting-edge technologies to understand patients’ illnesses. The coordination with other centers across the country could help doctors see patterns that would be hard to detect in a single ill patient and strengthen their confidence that a specific gene mutation is connected to a condition.

The other centers will be located at Baylor College of Medicine, Duke University, Stanford University, the University of California, Los Angeles, and Vanderbilt University Medical Center.

Undiagnosed diseases can take a huge financial and psychological toll on families. Patients often visit many clinics in search of a diagnosis, and having one can be important not only for finding the best treatment, but also for peace of mind and genetic counseling of other family members.

“We should not underestimate the value of carrying a diagnosis, because individuals who lack a diagnosis are actually a little suspect in terms of their complaints -- not being trusted by family, friends, employers, and even their doctors,” said Dr. William Gahl, clinical director of the NIH-based Undiagnosed Diseases Program. “If we can take away that element of desperation and have some diagnosis for them even though it’s a bad diagnosis, they’re incredibly grateful and it changes their lives and the lives of their families.”

One of the families waiting on a diagnosis are the Lussiers of Milton. From the day Philip was born more than 30 years ago, Betsy and Phil Lussier helplessly watched him struggle with a condition no one could comprehend. Philip was born small and failed to grow -- when he turned one, he still weighed just nine pounds.

He developed unexplained gastrointestinal problems, musculo-skeletal issues, and pain, and the Lussiers went to many genetics specialists in the search for a clue about what they were dealing with.

As Philip underwent surgeries, went on morphine, and received an evolving series of possible diagnoses that all turned out to be wrong, the uncertainty about what to expect was tremendously difficult. At one point, Betsy joined a support group for parents of children with muscular dystrophy, because it was one of the diagnoses Philip received. Despite the fact that it turned out to be the wrong diagnosis, she stayed in the group for 15 years.

“Living like that, not knowing tomorrow or where we were going down the road, it was so much harder than if we had some idea of what we’re dealing with,” Betsy Lussier said.

As time went on, things gradually got easier -- Philip is happier today and in less pain. In April, they celebrated his 30th birthday, a day the Lussiers never expected to be able to share with their son. He lives independently with the help of an aide, attends a day program, and comes home to Milton to spend the weekends, amusing his family with his sense of humor and a love of US history and sports.

In 2012, the Lussiers made a trip to the undiagnosed diseases program at the NIH to see if the latest genomic analysis could finally reveal what caused Philip’s condition. They aren’t holding their breath for a miracle treatment; instead, the information might help his younger siblings when they think about starting their own families.

“It would just be helpful to know if there is something genetic, because it’s a hard life Philip has lived,” Lussier said. “I would choose to have him here with us; he’s taught everybody else so much.”